Observations indicating the nature of the mutation in phenylketonuria.
Rabbit antiserum was prepared against purified normal human liver phenylalanine hydroxylase. This was used to test for cross-reacting material in crude extracts of livers from patients with classical phenylketonuria (PKU); the samples from patients were two livers obtained at autopsy and a needle biopsy core. None of these enzymically inactive livers contained detectable cross-reacting material capable of neutralizing antibody activity in double immunodiffusion and/or enzyme inhibition experiments. In an earlier study, no phenylalanine hydroxylase was found in the two autopsy PKU livers by an affinity chromatography method or by the use of a specific antiserum raised against purified monkey liver phenylalanine hydroxylase (Choo et al., 1979a). This evidence suggests that mutations in th PKU patients studied may be regulatory in nature.
D000936:Antigen-Antibody Complex; D006801:Humans; D007106:Immune Sera; D005779:Immunodiffusion; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism; D010661:Phenylketonurias / Q000235:genetics*
D000936:Antigen-Antibody Complex; D007106:Immune Sera; D010651:Phenylalanine Hydroxylase